Variants studied for proximal myopathy with extrapyramidal signs

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
14	6	4	0	1	20

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
MICU1	14	6	4	1	20

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	8	0	0	0	8
Baylor Genetics	3	0	0	0	3
MGZ Medical Genetics Center	1	1	1	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	2	1	0	0	3
Revvity Omics, Revvity	1	1	0	0	2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	2	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	1
Laboratory of Functional Genomics, Research Centre for Medical Genetics	1	0	0	0	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Lifecell International Pvt. Ltd	1	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	0	0	1

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